Revel Score:
ENST00000506883
0.030
ENST00000511045
0.030
ENST00000457717
0.030
ENST00000265517 (MANE Select)
0.030
ENST00000422897
0.030
ENST00000538053
0.030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583510A>G , CM000666.2:g.99583510A>G | GRCh38 |
| NC_000004.11:g.100504667A>G , CM000666.1:g.100504667A>G | GRCh37 |
| NC_000004.10:g.100723690A>G | NCBI36 |
| NG_011469.1:g.24428A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.386A>G MANE Select | ENSP00000265517.5:p.His129Arg | |
| ENST00000457717.6:c.386A>G | ENSP00000400821.1:p.His129Arg | |
| ENST00000511045.6:c.137A>G | ENSP00000427679.2:p.His46Arg | |
| ENST00000265517.9:c.386A>G | ENSP00000265517.5:p.His129Arg | |
| ENST00000422897.6:c.386A>G | ENSP00000407350.2:p.His129Arg | |
| ENST00000457717.5:c.386A>G | ENSP00000400821.1:p.His129Arg | |
| ENST00000506883.5:c.416A>G | ENSP00000426755.1:p.His139Arg | |
| ENST00000511045.5:c.467A>G | ENSP00000427679.1:p.His156Arg | |
| ENST00000619629.1:c.386A>G | ENSP00000482850.1:p.His129Arg | |
| NM_000253.3:c.386A>G | NP_000244.2:p.His129Arg | |
| NM_001300785.1:c.467A>G | NP_001287714.1:p.His156Arg | |
| NM_000253.4:c.386A>G | NP_000244.2:p.His129Arg | |
| NM_001300785.2:c.137A>G | NP_001287714.2:p.His46Arg | |
| NM_001386140.1:c.386A>G MANE Select | NP_001373069.1:p.His129Arg |